Results 151 to 160 of about 459,273 (291)

Inosine‐Triphosphate‐Pyrophosphatase Activity as a Potential Predictor of Methotrexate Remission in Juvenile Idiopathic Arthritis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Methotrexate (MTX) is the first‐line therapy for juvenile idiopathic arthritis (JIA), but up to 40% of patients do not respond to it. Low inosine triphosphate pyrophosphatase (ITPA) activity has been associated with reduced clinical remission. We investigated the role and underlying mechanisms of ITPA in vitro. Methods ITPA enzymatic activity
Sofia Sindici Forgiarini   +19 more
wiley   +1 more source

Identification of SNP interactions using logic regression [PDF]

open access: yes
Interactions of single nucleotide polymorphisms (SNPs) are assumed to be responsible for complex diseases such as sporadic breast cancer. Important goals of studies concerned with such genetic data are thus to identify combinations of SNPs that lead to a
Ickstadt, Katja, Schwender, Holger
core  

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still's Disease‐like Autoinflammatory Syndrome

open access: yesArthritis &Rheumatology, Accepted Article.
Objectives Still's Disease represents a prototypical polygenic systemic autoinflammatory diseases (SAIDs), characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still's disease remains unreported.
Longfang Chen   +23 more
wiley   +1 more source

ANK1 and EPB41 Variants and The Risk of Steroid‐Induced Osteonecrosis

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen   +21 more
wiley   +1 more source

Higher complement C4 gene copy number constitutes a shared genetic risk factor for giant cell arteritis and IgA vasculitis

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez   +296 more
wiley   +1 more source

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis   +5 more
wiley   +1 more source

Dried blood spot analysis in antidoping: Technical challenges, analytical advances, and future perspectives

open access: yesBulletin of the Korean Chemical Society, EarlyView.
Dried blood spot (DBS) analysis enables minimally invasive blood collection with strong analyte stability and simplified logistics, supporting anti‐doping applications beyond traditional matrices. Recent advances address hematocrit, volume variability, and matrix effects while expanding coverage to steroid esters, World Anti‐Doping Agency‐listed ...
Jihyun Yoon   +4 more
wiley   +1 more source

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